Canonical Allele Identifier: CA1329210872

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420528C= , CM000664.2:g.219420528C=	GRCh38
NC_000002.11:g.220285250C= , CM000664.1:g.220285250C=	GRCh37
NC_000002.10:g.219993494C=	NCBI36
NG_008043.1:g.7152C= , LRG_380:g.7152C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.243C=
ENST00000683013.1:n.157C=
ENST00000373960.4:c.769C= MANE Select	ENSP00000363071.3:p.Gln257=
ENST00000373960.3:c.769C=	ENSP00000363071.3:p.Gln257=
ENST00000477226.5:n.241C=
ENST00000492726.1:n.164C=
NM_001927.3:c.769C= , LRG_380t1:c.769C=	NP_001918.3:p.Gln257=
NM_001927.4:c.769C= MANE Select	NP_001918.3:p.Gln257=
NM_001382708.1:c.766C=	NP_001369637.1:p.Gln256=
NM_001382709.1:c.735+182C=	NP_001369638.1:n.735+182C=
NM_001382710.1:c.769C=	NP_001369639.1:p.Gln257=
NM_001382711.1:c.769C=	NP_001369640.1:p.Gln257=
NM_001382712.1:c.769C=	NP_001369641.1:p.Gln257=
NM_001382713.1:c.499C=	NP_001369642.1:p.Gln167=